A Novel Mutation vf Causing Abnormal Vacuoles in the Central Nervous System Maps on Rat Chromosome 8

Abstract

Body-tremorous rats were found in a colony of WTC-tm rats and a new coisogenic mutant strain void of the tm mutation was established. Histological analysis revealed that these rat mutants had abnormal vacuoles in the red nucleus of the midbrain, the reticular formation in the brain stem, and the white matter of the cerebellum and spinal cord. Electron microscopic observation showed many irregular myelin-bound vacuoles and degenerated oligodendroglia. Genetic analysis indicated that the presence of the abnormal vacuoles in the central nervous system (CNS) is controlled by a recessive gene named “vacuole formation (vf)” on chromosome (Chr) 8, and that this gene is also involved in the appearance of body tremors. Comparative maps suggested that the mouse and human orthologs would be located on Chr 9 (43-48 cM) and Chr 6 (328-370 cR₃₀₀₀), respectively. Since similar mutations have not been mapped yet around these regions, the authors believe this novel rat mutation will allow the discovery of a new function of these particular genes that is involved in the development and maintenance of the CNS.